X-linked agammaglobulinaemia (XLA) is a congenital abnormality in the development of the agammaglobulinemia-led B lymphocytes. It was one of the first primary immunodeficiencies described, but in the last 60 years treatment is still essentially unaltered. This overview is intended to summarise current results, therapies and potential fields of XLA research. The therapy of immunoglobulin lacks IgA and IgM, which places patients at a potential risk for recurrent respiratory tract infections. Recent cohort studies in Italy and the USA have shown that, despite best efforts, bronchiectasis remains a severe burden on this group. Nevertheless, gene therapy provides these patients a viable solution with evidence of conceptual murine modelling.
Recent cohort studies indicate the possible limits of existing immunoglobulin therapy, hence further study is necessary for the development of gene therapy. Until this becomes available, doctors should seek to decrease the diagnosis delay, assess lung illness periodically and customise target doses of immunoglobulin to lower patient infection rates.
